Department of Orthopaedics and Traumatology, University Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latiff, Bandar Tun Razak, Kuala Lumpur, Malaysia
Case Report
Clinical Manifestations of Simpson-Golabi-Behmel Syndrome
Author(s): Ong Chee Seng*, Muhd Hafifi Tulos and Amaramalar Selvi Naicker
Simpson–Golabi–Behmel (SGB) syndrome is a rare X-linked condition characterized by pre and post natal overgrowth, facial malformations, visceral, skeletal anomalies and an increased risk of neonatal death and childhood neoplasia. The syndrome is caused by alterations in GPC3 gene with loss of functional GPC3 lead to hyperactivation of hedgehog signalling resulting in clinical features of fetal overgrowth. Prenatal screening and new technologies in molecular testing, such as chromosomal microarray analysis and nextgeneration sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. However, SGB syndrome is rarely diagnosed in the prenatal setting. Here we reported a case of 12-year-old boy with a mild form type I SGB syndrome diagnosed postnatally in our centre. .. View More»
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